Table 4 The genes in the CNVs with OMIM numbers
CNV | MIM gene | Phenotype MIM number | Gene MIM number | Phenotype |
|---|---|---|---|---|
chr2:g.232963568_24305260del | AGXT | #259900 | *604285 | Hyperoxaluria, primary, type 1 |
ATG16L1 | #611081 | *610767 | Inflammatory bowel disease (Crohn disease) 10 | |
CAPN10 | #601283 | *605286 | Diabetes mellitus, noninsulin-dependent 1 | |
COL6A3 | #158810 | *120250 | Bethlem myopathy 1 | |
#616411 | *120250 | Dystonia 27 | ||
#254090 | *120250 | Ullrich congenital muscular dystrophy 1 | ||
D2HGDH | #600721 | *609186 | D-2-hydroxyglutaric aciduria | |
KIF1A | #614255 | *601255 | NESCAV syndrome | |
#614213 | *601255 | Neuropathy, hereditary sensory, type IIC | ||
#610357 | *601255 | Spastic paraplegia 30, autosomal dominant /recessive | ||
MLPH | #609227 | *606526 | Griscelli syndrome, type 3 | |
NDUFA10 | #618243 | *603835 | Mitochondrial complex I deficiency, nuclear type 22 | |
PDCD1 | #126200 | *600244 | Multiple sclerosis, disease progression, modifier of | |
#605218 | *600244 | Systemic lupus erythematosus, susceptibility to, 2 | ||
PER2 | #604348 | *603426 | ?Advanced sleep phase syndrome, familial, 1 | |
SAG | #258100 | *181031 | Oguchi disease-1 | |
#613758 | *181031 | Retinitis pigmentosa 47, autosomal recessive | ||
#620228 | *181031 | Retinitis pigmentosa 96, autosomal dominant | ||
TRAF3IP1 | #616629 | *607380 | Senior-Loken syndrome 9 | |
TWIST2 | #200110 | *607556 | Ablepharon-macrostomia syndrome | |
#209885 | *607556 | Barber-Say syndrome | ||
#227260 | *607556 | Focal facial dermal dysplasia 3, Setleis type | ||
UGT1A1 | #218800 | *191740 | Crigler-Najjar syndrome, type I | |
#606785 | *191740 | Crigler-Najjar syndrome, type II | ||
#237900 | *191740 | Hyperbilirubinemia, familial transient neonatal | ||
#601816 | *191740 | Bilirubin, serum level of, QTL1 | ||
#143500 | *191740 | Gilbert syndrome | ||
DTYMK | #619847 | *188345 | Neurodegeneration, childhood-onset, with progressive microcephaly | |
HDAC4 | #619797 | *605314 | Neurodevelopmental disorder with central hypotonia and dysmorphic facies | |
ACKR3 | #619215 | *610376 | ?Oculomotor-abducens synkinesis | |
chr6:g.158730978_170930050dup | DLL1 | #618709 | *606582 | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures |
ERMARD | # 615544 | 615532 | ?Periventricular nodular heterotopia 6 | |
IGF2R | #114550 | *147280 | Hepatocellular carcinoma, somatic | |
LPA | #618807 | *618807 | LPA deficiency, congenital; Coronary artery disease, susceptibility to | |
MPC1 | #614741 | *614738 | Mitochondrial pyruvate carrier deficiency | |
PDE10A | # 616921 | *610652 | Dyskinesia, limb and orofacial, infantile-onset | |
#616922 | *610652 | Striatal degeneration, autosomal dominant | ||
PLG | #619360 | *173350 | Angioedema, hereditary, 4 | |
#217090 | *173350 | Plasminogen deficiency, type I ;Dysplasminogenemia | ||
PRKN | #211980 | *602544 | Adenocarcinoma of lung, somatic | |
#167000 | *602544 | Ovarian cancer, somatic | ||
#600116 | *602544 | Parkinson disease, juvenile, type 2 | ||
RNASET2 | # 612951 | *612944 | Leukoencephalopathy, cystic, without megalencephaly | |
RSPH3 | #616481 | *615876 | Ciliary dyskinesia, primary, 32 | |
SMOC2 | #125400 | *607223 | Dentin dysplasia, type I, with microdontia and misshapen teeth | |
SOD2 | #612634 | *147460 | Microvascular complications of diabetes 6 | |
TBP | #607136 | *600075 | Spinocerebellar ataxia 17 | |
#168600 | *600075 | Parkinson disease, susceptibility to | ||
TBXT | #615709 | *601397 | Sacral agenesis with vertebral anomalies | |
#182940 | *601397 | Neural tube defects, susceptibility to | ||
THBS2 | #603932 | *603932 | Lumbar disc herniation, susceptibility to | |
ACAT2 | 614055 | *100678 | ?ACAT2 deficiency | |
PNLDC1 | #619528 | *619529 | Spermatogenic failure 57 | |
CEP43 | *605392 | Myeloproliferative disorder | ||
PSMB1 | #620038 | *602017 | ?Neurodevelopmental disorder with microcephaly, hypotonia, and absent language |